Bifid nose
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bifid nose | |
| fr | Nez bifide | |
| de | Nase, bifide | |
| es | Nariz bífida | |
| it | Naso bifido | |
| nl | Bifide neus | |
| pt | Nariz bífido | |
| pl | Rozszczep nosa | |
| cs | Rozštěp nosu | |
| uk | Роздвоєний ніс | |
| zh | 鼻正中裂 | |
| tr | Bifid burun |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109740 | BTNT | validated | |
| OMIM | 210400 | BTNT | validated | |
| ICD-10 | Q30.2 | NTBT | attributed | validated |
| ICD-11 | LA70.1 | E | specific | validated |
| MONDO | 0000110 | E | validated | |
| MeSH | C535441 | E | validated | |
| UMLS | C0221363 | E | validated | |
| GARD | 884 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:141234Median facial cleft
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011803 | Bifid nose | |
| Occasional (29-5%) | ||
| HP:0000316 | Hypertelorism | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2695
- This record as JSON: /data/d/2695.json